Seroatlas · Human Serome Atlas

RAPGEF1

Rap guanine nucleotide exchange factor 1

Also known as: C3G, GRF2, RPGF1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q13905
Gene: RAPGEF1
Ensembl: ENSG00000107263
Chromosome: 9
Canonical length: 1077 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI Gene

This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1077 residues, UniProt reviewed canonical sequence.

>Q13905|RAPGEF1
     1  MDTDSQRSHL SSFTMKLMDK FHSPKIKRTP SKKGKPAEVS VKIPEKPVNK EATDRFLPEG
    61  YPLPLDLEQQ AVEFMSTSAV ASRSQRQKNL SWLEEKEKEV VSALRYFKTI VDKMAIDKKV
   121  LEMLPGSASK VLEAILPLVQ NDPRIQHSSA LSSCYSRVYQ SLANLIRWSD QVMLEGVNSE
   181  DKEMVTTVKG VIKAVLDGVK ELVRLTIEKQ GRPSPTSPVK PSSPASKPDG PAELPLTDRE
   241  VEILNKTTGM SQSTELLPDA TDEEVAPPKP PLPGIRVVDN SPPPALPPKK RQSAPSPTRV
   301  AVVAPMSRAT SGSSLPVGIN RQDFDVDCYA QRRLSGGSHS YGGESPRLSP CSSIGKLSKS
   361  DEQLSSLDRD SGQCSRNTSC ETLDHYDPDY EFLQQDLSNA DQIPQQTAWN LSPLPESLGE
   421  SGSPFLGPPF QLPLGGHPQP DGPLAPGQQT DTPPALPEKK RRSAASQTAD GSGCRVSYER
   481  HPSQYDNISG EDLQSTAPIP SVPYAPFAAI LPFQHGGSSA PVEFVGDFTA PESTGDPEKP
   541  PPLPEKKNKH MLAYMQLLED YSEPQPSMFY QTPQNEHIYQ QKNKLLMEVY GFSDSFSGVD
   601  SVQELAPPPA LPPKQRQLEP PAGKDGHPRD PSAVSGVPGK DSRDGSERAP KSPDALESAQ
   661  SEEEVDELSL IDHNEIMSRL TLKQEGDDGP DVRGGSGDIL LVHATETDRK DLVLYCEAFL
   721  TTYRTFISPE ELIKKLQYRY EKFSPFADTF KKRVSKNTFF VLVRVVDELC LVELTEEILK
   781  LLMELVFRLV CNGELSLARV LRKNILDKVD QKKLLRCATS SQPLAARGVA ARPGTLHDFH
   841  SHEIAEQLTL LDAELFYKIE IPEVLLWAKE QNEEKSPNLT QFTEHFNNMS YWVRSIIMLQ
   901  EKAQDRERLL LKFIKIMKHL RKLNNFNSYL AILSALDSAP IRRLEWQKQT SEGLAEYCTL
   961  IDSSSSFRAY RAALSEVEPP CIPYLGLILQ DLTFVHLGNP DYIDGKVNFS KRWQQFNILD
  1021  SMRCFQQAHY DMRRNDDIIN FFNDFSDHLA EEALWELSLK IKPRNITRRK TDREEKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAPGEF1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 88 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 88 nTPM
tonsil: 58 nTPM
tongue: 54 nTPM
placenta: 51 nTPM
lymph node: 50 nTPM
appendix: 49 nTPM

Single-cell type

plasma cells: 1,122 nCPM
neutrophils: 713 nCPM
retinal horizontal cells: 687 nCPM
monocytes: 663 nCPM
cdc: 623 nCPM
macrophages: 544 nCPM

Immune cell

memory B-cell: 4.7 nTPM
basophil: 2.3 nTPM
gdT-cell: 1.9 nTPM
naive B-cell: 1.9 nTPM
memory CD4 T-cell: 1.5 nTPM
T-reg: 1.1 nTPM

Brain region

choroid plexus: 103 nTPM
basal ganglia: 90 nTPM
thalamus: 77 nTPM
medulla oblongata: 76 nTPM
midbrain: 74 nTPM
hypothalamus: 73 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.22
gnomAD pLI: 1
gnomAD missense Z: 3.13
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RAPGEF1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RAPGEF1 as an antibody target. Whether an autoantibody or antibody against RAPGEF1 could matter depends on whether native RAPGEF1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RAPGEF1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RAPGEF1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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